ClinVar Miner

Submissions for variant NM_000052.7(ATP7A):c.2172+5G>C (rs797045347)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000193917 SCV000246669 pathogenic Menkes kinky-hair syndrome 2013-02-08 criteria provided, single submitter clinical testing
Invitae RCV001044291 SCV001208081 likely pathogenic Menkes kinky-hair syndrome; Cutis laxa, X-linked; Distal spinal muscular atrophy, X-linked 3 2019-02-15 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the ATP7A gene. It does not directly change the encoded amino acid sequence of the ATP7A protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is not present in population databases (ExAC no frequency). This variant has been observed in multiple individuals affected with Menkes disease (PMID: 10319589, 21494555, 21208200). This variant is also know as c.2317+5G>C ClinVar contains an entry for this variant (Variation ID: 210415). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this variant disrupts mRNA splicing (PMID:10319589, 21208200). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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